Canonical Allele Identifier: CA6162611

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442348A>G , CM000673.2:g.71442348A>G	GRCh38
NC_000011.9:g.71153394A>G , CM000673.1:g.71153394A>G	GRCh37
NC_000011.8:g.70831042A>G	NCBI36
NG_012655.2:g.11084T>C , LRG_340:g.11084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.327T>C	ENSP00000435707.3:p.Leu109=
ENST00000526780.6:c.327T>C	ENSP00000435668.2:p.Leu109=
ENST00000527316.6:c.153T>C	ENSP00000435047.2:p.Leu51=
ENST00000682708.1:c.327T>C	ENSP00000506866.1:p.Leu109=
ENST00000682880.1:c.327T>C	ENSP00000507520.1:p.Leu109=
ENST00000683287.1:c.363T>C	ENSP00000507607.1:p.Leu121=
ENST00000683714.1:c.327T>C	ENSP00000508207.1:p.Leu109=
ENST00000683874.1:n.604T>C
ENST00000685320.1:c.-259T>C	ENSP00000509319.1:n.-259T>C
ENST00000690257.1:c.231T>C	ENSP00000510750.1:p.Leu77=
ENST00000355527.8:c.327T>C MANE Select	ENSP00000347717.4:p.Leu109=
ENST00000355527.7:c.327T>C	ENSP00000347717.3:p.Leu109=
ENST00000407721.6:c.327T>C	ENSP00000384739.2:p.Leu109=
ENST00000526780.5:c.327T>C	ENSP00000435668.1:p.Leu109=
ENST00000527316.5:c.231T>C	ENSP00000435047.1:p.Leu77=
NM_001163817.1:c.327T>C	NP_001157289.1:p.Leu109=
NM_001360.2:c.327T>C , LRG_340t1:c.327T>C	NP_001351.2:p.Leu109=
XM_011544777.1:c.327T>C	XP_011543079.1:p.Leu109=
XM_011544777.2:c.327T>C	XP_011543079.1:p.Leu109=
NM_001163817.2:c.327T>C	NP_001157289.1:p.Leu109=
NM_001360.3:c.327T>C MANE Select	NP_001351.2:p.Leu109=